المؤلفون: Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo

المصدر: Cells, Vol 13, Iss 4, p 329 (2024)

مصطلحات موضوعية: CAPN3, limb girdle muscular dystrophy, western blotting analysis, RNA, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/13/4/329; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/2885ad79e6d1491eb0ea11c7ce31409b

المؤلفون: Sara Aguti, Véronique Bolduc, Pierpaolo Ala, Mark Turmaine, Carsten G. Bönnemann, Francesco Muntoni, Haiyan Zhou

المصدر: Molecular Therapy: Nucleic Acids, Vol 21, Iss , Pp 205-216 (2020)

مصطلحات موضوعية: Collagen VI, congenital muscular dystrophy, Ullrich muscular dystrophy, deep intronic mutation, exon skipping, antisense oligonucleotide, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253120301554; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/a462e08e730f43559ac48014b92f9fe6

المؤلفون: Sara Aguti, Fady Guirguis, Carsten Bönnemann, Francesco Muntoni, Véronique Bolduc, Haiyan Zhou

المصدر: Methods in Molecular Biology ISBN: 9781071627716

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1ad0f90c36ba92b4afa9036370388445
https://doi.org/10.1007/978-1-0716-2772-3_20

المؤلفون: Sara, Aguti, Fady, Guirguis, Carsten, Bönnemann, Francesco, Muntoni, Véronique, Bolduc, Haiyan, Zhou

المصدر: Methods in molecular biology (Clifton, N.J.). 2587

مصطلحات موضوعية: Muscular Dystrophy, Duchenne, Humans, Exons, RNA, Messenger, Collagen Type VI, Oligonucleotides, Antisense

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5029088c379976a1782c681b6d9565bd
https://pubmed.ncbi.nlm.nih.gov/36401040

المؤلفون: Haiyan Zhou, Sara Aguti, Pierpaolo Ala, Francesco Muntoni, Véronique Bolduc, Mark Turmaine, Carsten G. Bönnemann

المصدر: Molecular Therapy: Nucleic Acids, Vol 21, Iss, Pp 205-216 (2020)
Molecular Therapy. Nucleic Acids

مصطلحات موضوعية: 0301 basic medicine, antisense oligonucleotide, extra cellular matrix, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Collagen VI, Ullrich muscular dystrophy, Drug Discovery, deep intronic mutation, Intronic Mutation, medicine, Gene, congenital muscular dystrophy, Oligonucleotide, lcsh:RM1-950, RNA, medicine.disease, Molecular biology, Exon skipping, 030104 developmental biology, lcsh:Therapeutics. Pharmacology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Congenital muscular dystrophy, Molecular Medicine, exon skipping

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::532a6858a9ec1a11d9d10897dcc660cd
http://www.sciencedirect.com/science/article/pii/S2162253120301554

المؤلفون: Sara, Aguti, Elena, Marrosu, Francesco, Muntoni, Haiyan, Zhou

المصدر: Methods in molecular biology (Clifton, N.J.). 2176

مصطلحات موضوعية: Sclerosis, Mutation, Oligonucleotides, Fluorescent Antibody Technique, Humans, Collagen Type VI, Genetic Therapy, Fibroblasts, Real-Time Polymerase Chain Reaction, Transfection, Alleles, Muscular Dystrophies, Genes, Dominant

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::4c729684243795aeef6a37cf8d9c5105
https://pubmed.ncbi.nlm.nih.gov/32865794

المؤلفون: Sara Aguti, Francesco Muntoni, Haiyan Zhou, Elena Marrosu

المصدر: Methods in Molecular Biology ISBN: 9781071607701

مصطلحات موضوعية: 0301 basic medicine, Mutation, Ullrich congenital muscular dystrophy, RNA, Biology, medicine.disease, medicine.disease_cause, Molecular biology, In vitro, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine, Congenital muscular dystrophy, Gene silencing, Cellular model, Gene, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8333144196d0973fe33322ec91cdff2a
https://doi.org/10.1007/978-1-0716-0771-8_16

المؤلفون: Monkol Lek, Steve D. Wilton, Sandra Donkervoort, Katherine Sizov, Alessandra Ferlini, Matthew Nalls, Carsten G. Bönnemann, Eric Hanssen, Cristina Jou, Haiyan Zhou, C. Gartioux, Herimela Solomon-Degefa, Taru Tukiainen, Oded Regev, Francesco Muntoni, A. Reghan Foley, Shireen R. Lamandé, Yan Li, Beryl B. Cummings, Ying Hu, Grace S. Chen, Jamie L. Marshall, Sara Aguti, Kamel Mamchaoui, Russell J. Butterfield, Cecilia Jimenez-Mallebrera, Véronique Bolduc, Valérie Allamand, Daniel G. MacArthur, Raimund Wagener, Apurva Sarathy, Dina Marek-Yagel, Anna Sarkozy, Francesca Gualandi

المساهمون: National Institute of Neurological Disorders and Stroke [Bethesda] (NINDS), National Institutes of Health [Bethesda] (NIH), University of Cologne, Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de Recherche Mathématique de Rennes (IRMAR), AGROCAMPUS OUEST, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA), Cardiac Unit, Institute of Child Health (UCL), University College of London [London] (UCL), Massachusetts General Hospital [Boston], Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], New York University [New York] (NYU), NYU System (NYU), Chaim Sheba Medical Center, University of Utah School of Medicine [Salt Lake City], Hospital Sant Joan de Déu [Barcelona], Università degli Studi di Ferrara (UniFE), University of Melbourne, Murdoch University, Murdoch Children's Research Institute (MCRI), Centre de recherche en Myologie – U974 SU-INSERM, Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-École normale supérieure - Rennes (ENS Rennes)-Université de Rennes 2 (UR2)-Centre National de la Recherche Scientifique (CNRS)-INSTITUT AGRO Agrocampus Ouest, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Università degli Studi di Ferrara = University of Ferrara (UniFE), ANR-11-LABX-0020,LEBESGUE,Centre de Mathématiques Henri Lebesgue : fondements, interactions, applications et Formation(2011), Gestionnaire, HAL Sorbonne Université 5

المصدر: JCI Insight
JCI Insight, American Society for Clinical Investigation, 2019, 4 (6), ⟨10.1172/jci.insight.124403⟩
JCI Insight, 2019, 4 (6), ⟨10.1172/jci.insight.124403⟩

مصطلحات موضوعية: 0301 basic medicine, [SDV.MHEP.AHA] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Collagens, Extracellular matrix, Muscle Biology, Neuromuscular disease, Therapeutics, RNA Splicing, DNA Mutational Analysis, Gene Expression, Computational biology, Collagen Type VI, Biology, medicine.disease_cause, Muscular Dystrophies, NO, 03 medical and health sciences, Exon, 0302 clinical medicine, Collagen VI, LS2_2, medicine, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], CRISPR, Humans, splice, Genetic Predisposition to Disease, RNA, Messenger, Muscular dystrophy, Skin, Mutation, Base Sequence, Intron, High-Throughput Nucleotide Sequencing, General Medicine, Exons, Genetic Therapy, Fibroblasts, medicine.disease, Introns, 3. Good health, 030104 developmental biology, 030220 oncology & carcinogenesis, RNA splicing, RNA Splice Sites, CRISPR-Cas Systems, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58baff46c74d5cb93feafda52d19dd74
https://hal.sorbonne-universite.fr/hal-03285227/document

المؤلفون: Haiyan Zhou, Sara Aguti, Alberto Malerba

المصدر: Expert opinion on biological therapy. 18(6)

مصطلحات موضوعية: 0301 basic medicine, viruses, Duchenne muscular dystrophy, Genetic enhancement, Clinical Biochemistry, Bioinformatics, medicine.disease_cause, Muscular Atrophy, Spinal, 03 medical and health sciences, Therapeutic approach, Genome editing, Drug Discovery, medicine, Animals, Humans, Muscular dystrophy, Muscle, Skeletal, Adeno-associated virus, Pharmacology, business.industry, Infant, Spinal muscular atrophy, Genetic Therapy, Dependovirus, medicine.disease, SMA, Muscular Dystrophy, Duchenne, 030104 developmental biology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ed97a81c749ddc5d3b992cb300b7795
https://pubmed.ncbi.nlm.nih.gov/29781327

المؤلفون: Yaqun Zou, Haiyan Zhou, Apurva Sarathy, Francesco Muntoni, Sara Aguti, Véronique Bolduc, Carsten G. Bönnemann

المصدر: Neuromuscular Disorders. 29:S193

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, Oligonucleotide, business.industry, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, medicine, Neurology (clinical), medicine.disease, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3ebe6dd96bee130f285d8abc9d152ca6
https://doi.org/10.1016/j.nmd.2019.06.545

المؤلفون: Lucy Feng, D. Scaglioni, Pierpaolo Ala, Anna Sarkozy, S. Torelli, D. Ardicli, R. Mein, F. Muntoni, Rahul Phadke, A. Richard-Loendt, Sara Aguti, D. Chambers, M. Beck, Haiyan Zhou, Caroline Sewry

المصدر: Neuromuscular Disorders. 29:S194

مصطلحات موضوعية: Skeletal muscle, Disease, Biology, Molecular biology, medicine.anatomical_structure, Neurology, Collagen VI, In situ hybridisation, Pediatrics, Perinatology and Child Health, medicine, Deep intronic mutation, In patient, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cc9b574781a8ced275e36c01421e6767
https://doi.org/10.1016/j.nmd.2019.06.549

المؤلفون: Haiyan Zhou, Francesco Muntoni, Sara Aguti, Simon H. Parson, P. Brogan, Ying Hong, F. Catapano, Mariacristina Scoto

المصدر: Neuromuscular Disorders. 27:S29

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), Spinal muscular atrophy, business, medicine.disease, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ae0b0b4dc4e55981b6da53cdb85c5232
https://doi.org/10.1016/s0960-8966(17)30305-x